Linked Data
dbSNP Id:
rs754449962
ExAC:
17:2573424 T / C
gnomAD v2:
17-2573424-T-C
gnomAD v4:
17-2670130-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.2670130T>C , CM000679.2:g.2670130T>C | GRCh38 |
| NC_000017.10:g.2573424T>C , CM000679.1:g.2573424T>C | GRCh37 |
| NC_000017.9:g.2520174T>C | NCBI36 |
| NG_009799.1:g.81502T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000397195.10:c.400-33T>C MANE Select | ENSP00000380378.4:n.400-33T>C | |
| ENST00000674608.1:c.454-33T>C | ENSP00000501976.1:n.454-33T>C | |
| ENST00000674717.1:c.205-33T>C | ENSP00000501931.1:n.205-33T>C | |
| ENST00000675202.1:c.400-33T>C | ENSP00000502843.1:n.400-33T>C | |
| ENST00000675331.1:c.400-33T>C | ENSP00000502031.1:n.400-33T>C | |
| ENST00000675390.1:c.400-33T>C | ENSP00000501969.1:n.400-33T>C | |
| ENST00000675430.1:n.627-33T>C | ||
| ENST00000675621.1:c.400-33T>C | ENSP00000502117.1:n.400-33T>C | |
| ENST00000675764.1:c.*354-33T>C | ENSP00000502242.1:n.*354-33T>C | |
| ENST00000676077.1:c.205-33T>C | ENSP00000502507.1:n.205-33T>C | |
| ENST00000676098.1:c.400-33T>C | ENSP00000502735.1:n.400-33T>C | |
| ENST00000676188.1:c.400-33T>C | ENSP00000502577.1:n.400-33T>C | |
| ENST00000676201.1:n.554-33T>C | ||
| ENST00000676353.1:c.205-33T>C | ENSP00000502737.1:n.205-33T>C | |
| ENST00000676456.1:n.505-33T>C | ||
| ENST00000397193.7:n.208-33T>C | ||
| ENST00000397195.9:c.400-33T>C | ENSP00000380378.4:n.400-33T>C | |
| ENST00000572915.6:n.480-145T>C | ||
| ENST00000574816.5:n.31-6184T>C | ||
| ENST00000609078.1:n.359-33T>C | ||
| NM_000430.3:c.400-33T>C | NP_000421.1:n.400-33T>C | |
| XM_011523901.1:c.454-33T>C | XP_011522203.1:n.454-33T>C | |
| XM_011523902.1:c.454-33T>C | XP_011522204.1:n.454-33T>C | |
| XM_011523903.1:c.454-33T>C | XP_011522205.1:n.454-33T>C | |
| XM_011523904.1:c.454-33T>C | XP_011522206.1:n.454-33T>C | |
| XM_011523901.2:c.454-33T>C | XP_011522203.1:n.454-33T>C | |
| XM_011523902.3:c.454-33T>C | XP_011522204.1:n.454-33T>C | |
| XM_011523903.2:c.454-33T>C | XP_011522205.1:n.454-33T>C | |
| XM_017024701.1:c.400-33T>C | XP_016880190.1:n.400-33T>C | |
| XM_017024702.2:c.205-33T>C | XP_016880191.1:n.205-33T>C | |
| NM_000430.4:c.400-33T>C MANE Select | NP_000421.1:n.400-33T>C |